Got my Genetic Test Back

[Amooliakin]

I find this so interesting..... So maybe you will too...

My daughter Rebecca has celiac, definitely and for sure, although we don't have the genetic test for her.

My son and I were tested and the blood work says we don't have celiac.

We requested the gene test to be done at the same time for my son and myself (since they already had the blood) but for some reason they only ran the gene test on my blood and not his.

In my case I do NOT have the HLA DQ2 OR the HLA DQ8 genes. However I do have the HLA DQA1*05... which is "half of the DQ2 hetrerodimer associated with celiac disease".

My lab report says that the results do not exclude a diagnosis of celiac disease.

I am really curious to see if my son or daughter has either the DQ2 or the DQ8. If they do, then I assume they got it from their biological father (an unknown sperm donor). If they have the HLA DQ1*05 then I assume it came from me... or from him.... or both...

I know this make no difference at all - and I am not tying to blame the sperm bank or assuage any guilt for passing this on.

I just find it all really interesting....

I will of course let you all know when and if my kids have the genetic marker tests done.
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Amy - Mom to two kids, one with Celiac, and assorted pets including 9 mice

[ostrich]

I could be very wrong about this, but I thought that the genes usually came from both parents. So if you have half and the sperm donor has the other half, it explains Rebecca.
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Ostrich :>--O==={

I lie below, you float above
In the pretty white ships that I am dreaming of

[Amooliakin]

Yes, of course Rebecca has genes from both sides. For instance I have blue eyes and the donor has brown. Both my kids have brown eyes because blue is the recessive color, so unless the sperm donor had one blue and one brown gene and he passed on the blue (not likely since he is Asian) any kids would havet to have brown eyes with the Bb combination (one Brown and one blue gene).

In the case of celiac, I read that you only have to inherit one of the genes from one side. If you get it from both sides you are even more likely to develop celiac. I read an article about "super celiacs" who have celiac passed on from both sides as the DQ2 and DQ2 or DQ8 and DQ8 or one of each.

If I didn't have the gene at all, then Rebecca must have gotten it from the other side and hence the donor would have to be a carrier of the celiac gene (if you don't have the gene, you can't pass it along).

But it is made more confusing that I have half of the DQ2... I had not heard of that until I got back the labs. So I too wonder if Rebecca could have inherited a half from me and a half from the donor or if she inherited a DQ2 or DQ8 from the other side.

When she has her follow-up blood test done at 6 months, I will request the genetic test too. Just because I am curious.

Also - my mother just told me that she has some cousins who were "banana babies" and could not eat bread. They are three brothers - all middle aged by now. I will have to call them and investigate.
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Amy - Mom to two kids, one with Celiac, and assorted pets including 9 mice

[aklap]

Hi Amy,

I'll be the 1st to admit - I don't understand much of the technical mumbo jumbo behind the genetics of this. All the punnett squares and dominate and recessive genes we learned about in HS biology just made my eyes glaze over. LOL!!

I do know DQ2 and DQ8 currently mapped to CD [and other auto immune diseases]. DQ1 is thought to be mapped to gluten sensitivity. I'm sure as all this unravels, they probably will find more genes involved.

From my understanding you could get a double set. One from mother and one from father. I don't think I've heard of having 1/2 of the DQ2 or DQ8 gene before...then again...it maybe was there, but I didn't catch it.

We do have some links around here concerning the genetics stuff, if you do a search you'll find them [sorry I'm on my way to bed or I'd look them up for you].

I am sorry I can't be any more help than that


Here are some others that might interest you:
http://www.mlo-online.com/articles/0106/0106cover_story.pdf - This looks like it explains thing pretty well, I have not read it to comprehend it yet. It's something I need to do . This is part of The Gluten File. The gang at Braintalk Gluten Sensitivity/Celiac Disease Forum are masters at the technical stuff [and other stuff too]!

http://www.enabling.org/ia/celiac/cel-hla.html

http://bidmc.harvard.edu/content/bidmc/Departments/Medicine/Schuppan.pdf
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Al

“We cannot all do great things, but we can do small things with great love.” Mother Teresa

[Amooliakin]

THANKS for the links! I just started reading the first article and I already have a much better understanding of the DQA1*05 molecule and how it can combine to make a DQ2.

I can't wait to find out my kids genetic pictures.

I do find all of this just fascinating.

And of course the more I learn the happier I am that my child is feeling better and there is so much information out there about this common disease.

On the other hand I still can't believe sometimes how quickly our whole family has been immersed into this new world of Gluten and Celiac and genetic markers..... Isn't life strange?
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Amy - Mom to two kids, one with Celiac, and assorted pets including 9 mice